lysosomal storage disease
http://purl.obolibrary.org/obo/MONDO_0002561
A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. [ PMID:21723623 ]
Term info
- SCTID:23585005 (MONDO:equivalentTo)
- DOID:3211 (MONDO:equivalentTo)
- NCIT:C61250 (MONDO:equivalentTo)
- MESH:D016464 (MONDO:equivalentTo)
- UMLS:C0085078 (NCIT:C61250)
- UMLS:CN205533 (MONDO:equivalentTo)
- Orphanet:68366 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
http://purl.obolibrary.org/obo/NCIT_C61250, http://linkedlifedata.com/resource/umls/id/CN205533, http://purl.obolibrary.org/obo/DOID_3211, http://identifiers.org/mesh/D016464, http://linkedlifedata.com/resource/umls/id/C0085078, http://purl.obolibrary.org/obo/Orphanet_68366, http://identifiers.org/snomedct/23585005
lysosome disorder, disorder of lysosomal enzymes, disorder of lysosomal enzyme, lysosomal storage metabolism disorder, lysosome disease, lysosomal disorder, inborn lysosomal enzyme disorder, lysosomal storage disorder, lysosomal disease
phospholipidosis
MONDO:0002561